Objective Although many disease-associated mitochondrial DNA (mtDNA) mutations ha been characterized. the relationship between the mutant genotype and respirators phenotype remains to be clarified in many cases. The availability of patient cells and cybrids that contain patient mitochondria. and newly developed techniques to study mitochondrial complexes, provide novel approaches to address this problem. It is intended to test the pathogenicity of mtDNA mutations. Firstly by attempting to complement a mutant mitochondrial gene. which will entail transfecting patient cells with a code corrected version of the defective mitochondrial gene. Secondly by transfecting normal cells with a mutant mitochondrial gene. If, the synthetic genes alter the respiratory phenotype this will provide the strongest evidence to date of a causal role for mtDNA mutations in human disease. Moreover, in the longer term this strategy could offer a novel route to gene therapy of mitochondrial diseases. Fields of science medical and health sciencesmedical biotechnologygenetic engineeringgene therapynatural sciencesbiological sciencesgeneticsDNAnatural sciencesbiological sciencesgeneticsmutation Programme(s) FP4-TMR - Specific research and technological development programme in the field of the training and mobility of researchers, 1994-1998 Topic(s) 0302 - Post-doctoral research training grants TL05 - Cell Biology Call for proposal Data not available Funding Scheme RGI - Research grants (individual fellowships) Coordinator University of Dundee EU contribution No data Address Ninewells Hospital and Medical School DD1 9SY Dundee United Kingdom See on map Total cost No data Participants (1) Sort alphabetically Sort by EU Contribution Expand all Collapse all Not available Netherlands EU contribution No data Address See on map Total cost No data